Mosaic Embryos

Anonymous
We just found out that one of our embryos was missing information on chromosome 11 and therefore was considered abnormal. Our RE advised that some people hold on to it as opposed to discarding it in the event something happens in science where they can go back and assess further.

We are having a hard time discarding it because of the unknown factor.

Anybody have any experience or insight on this?
Anonymous
For religious reasons, we wouldn't discard, but would do the transfer during a non-fertile time.
Anonymous
Also, for religious and moral reasons, my husband and I would not discard. You never know what can happen in science and what chances the embryo might get. He/she deserves a chance at life.
Anonymous
How long are you willing to pay for storage? Personally, I don't have any confidence that scientists will be allowed the kind of latitude they need to be able to test repairing trisomies and monosomies within a timeframe that I'm able to have kids. I desperately wish it were so, but it doesn't seem realistic to me.

I say this as someone who has TFMR'd twice and gotten only two embryos out of three rounds of IVF -- and both were abnormal.

In terms of "these embryos deserve a chance at life" argument -- they had one. They didn't replicate properly. I don't see valor in freezing them, or even transferring them with a known anomaly. It's excruciating to carry an abnormal fetus. I wouldn't wish that on anyone. And I certainly wouldn't knowingly inflict what is most likely a miscarriage, death through early labor, or a life of pain on myself or my child.
Anonymous
I would discard it.
The science will on repairing DNA is in it's infancy and the odds that this embryo will be repaired is pretty much 0.
There was a paper that came out in Nature this week about correcting a 4 base-pair mutation on a gene related to hypertrophic cardiomyopathy. But
1) the correction had to be done at the time of fertilization. Once the egg is fertilized and the cells have started to replicate, the DNA is set and the correction can't be made 2) You have an entire piece of chromosome missing in the embryos. This is way bigger than replacing a couple of base pair.

I suspect the doctor just wants the fees for freezing the embryo.
Anonymous
I would freeze the embryo and see what happens in medicine. The advancements in the last 10 years were spectacular. Just 4 years ago PGS was in infancy and the first PGS baby was conceived. Now, PGS is mainstream in all reputable clinics. The growth of medical discoveries is exponential. We live in the best of times as far as molecular biology is concerned. Just few days ago the first human embryo was edited. It is very likely that gene editing post-conception will absolutely exist. The freezing fees are low and clinics don't make significant money off of them. They make money off drugs and procedures. Hopefully a fee of around $500 per year is fine for your family in hope you can get a child one day.
Anonymous
If you don't want to disregard for religious reasons and have the funds to freeze, do it for peace of mind. But personally, if I know something is abnormal about an embryo to begin with I am not interested in attempting to have a baby that will seriously significant issues. Having a baby has enough risks without adding known genetic mutations/issues.

Anonymous
Anonymous wrote:I would freeze the embryo and see what happens in medicine. The advancements in the last 10 years were spectacular. Just 4 years ago PGS was in infancy and the first PGS baby was conceived. Now, PGS is mainstream in all reputable clinics. The growth of medical discoveries is exponential. We live in the best of times as far as molecular biology is concerned. Just few days ago the first human embryo was edited. It is very likely that gene editing post-conception will absolutely exist. The freezing fees are low and clinics don't make significant money off of them. They make money off drugs and procedures. Hopefully a fee of around $500 per year is fine for your family in hope you can get a child one day.


The first paper on Preimplantation Genetic Diagnosis was in 1967 which described sexing of rabbit blastocysts. That's exactly 50 years ago.
In 1986-1988 several papers were published on performing the technique on human embryos.
The first clinical application of preimplantation genetic testing was published in 1990 detailing two couples at risk for transmission of X-linked mutations. PGS testing didn't start becoming routine until the early 2000's.

I also want to point out that sequencing DNA is a lot easier then repairing it. A lot can go wrong when you're trying to switch out pieces of DNA (or in OP's case, add on DNA which has never been done before, either in animals or humans).
Anonymous
OP, assuming that your embryo is a mosaic which also has normal cells in addition to the abnormal ones, I think the PPs either don't understand your question or don't understand the science behind keeping mosaic embryos. It is possible for mosaic embryos to self-correct-- I doubt the OP is hoping for some cutting edge procedure to "fix" or "edit" her embryo. Additionally, most mosaics with monosomies don't have any risk of producing a live baby with problems-- they would just miscarry if they don't self-correct. Mosaics with trisomies are different, and likelihood of live birth with trisomy depends on which chromosome is involved. Here is the NY Times article explaining that mosaics can produce normal babies:

https://www.nytimes.com/2016/04/19/health/ivf-in-vitro-fertilization-pregnancy-abnormal-embryos-mosaic.html

I have a mosaic embryo in the freezer. Not sure what I will do with it. If there is really a 40% chance of a healthy baby (as stated in the NY Times article), that's not much lower than the 60% chance I've been quoted for a PGS normal embryo. But there's very little research done on this so far, so I might just pay storage fees while I wait for better research.
Anonymous
Anonymous wrote:OP, assuming that your embryo is a mosaic which also has normal cells in addition to the abnormal ones, I think the PPs either don't understand your question or don't understand the science behind keeping mosaic embryos. It is possible for mosaic embryos to self-correct-- I doubt the OP is hoping for some cutting edge procedure to "fix" or "edit" her embryo. Additionally, most mosaics with monosomies don't have any risk of producing a live baby with problems-- they would just miscarry if they don't self-correct. Mosaics with trisomies are different, and likelihood of live birth with trisomy depends on which chromosome is involved. Here is the NY Times article explaining that mosaics can produce normal babies:

https://www.nytimes.com/2016/04/19/health/ivf-in-vitro-fertilization-pregnancy-abnormal-embryos-mosaic.html

I have a mosaic embryo in the freezer. Not sure what I will do with it. If there is really a 40% chance of a healthy baby (as stated in the NY Times article), that's not much lower than the 60% chance I've been quoted for a PGS normal embryo. But there's very little research done on this so far, so I might just pay storage fees while I wait for better research.


13:06 here. My apologies. Obviously I do not know enough about mosaicism in IVF.
Anonymous
OP: You would know if it's mosaic embryo. From your post, it sounds like it is an abnormal embryo but your title suggests that it's a mosaic embryo. I recently have this conversation with my RE, who said that we would know if it's a mosaic embryo from the PGS testing.

Also, someone suggest transferring the abnormal embryo during non fertile period. I am not sure where you are at, OP, but SG would not allow that to happen. I also asked.
Anonymous
We would freeze.
Anonymous
I have never heard that people might transfer during a non fertile time for religious reasons - I am genuinely interested in the rationale behind this....
Anonymous
Anonymous wrote:I have never heard that people might transfer during a non fertile time for religious reasons - I am genuinely interested in the rationale behind this....

And the funding. FETs aren't cheap.
Anonymous
Did you read the article on genetic repair in yesterday's Post. This is not going to happen in our lifetime in any kind of widely available way, even if it does happen scientifically.
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